IllnessTSC2/PKD1 microdeletion syndrome
Summary
Short information
Array diagnostics (or two curated single gene sequence analyses) according to the clinical suspicion TSC2/PKD1 microdeletion syndrome
ID
TP0390
Number of genes
2
Accredited laboratory test
Examined sequence length
18,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
ARR
[NGS +]
Gene panel
Informations about the disease
Clinical Comment
PKD-TSC: early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system)
Synonyms
- AD polycystic kidney disease type 1 with tuberous sclerosis
- PKD + tuberous sclerosis (TSC2)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
ICD10 Code
Q61.3
Bioinformatics and clinical interpretation
No text defined